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A Novel Mutation in the Fibrinogen Bβ Chain (c.490G>A; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia
http://hdl.handle.net/10091/00022106
http://hdl.handle.net/10091/00022106e6cc7d3e-3be5-4d67-9701-e26d88982428
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ijms-18-02470-v2.pdf (1.8 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2020-05-15 | |||||
| タイトル | ||||||
| タイトル | A Novel Mutation in the Fibrinogen Bβ Chain (c.490G>A; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| DOI | ||||||
| 関連識別子 | https://doi.org/10.3390/ijms18112470 | |||||
| 関連名称 | 10.3390/ijms18112470 | |||||
| キーワード | ||||||
| 主題 | hypofibrinogenemia, FGB, splicing abnormality, cryptic splice site | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Taira, Chiaki
× Taira, Chiaki× Matsuda, Kazuyuki× Arai, Shinpei× Sugano, Mitsutoshi× Uehara, Takeshi× Okumura, Nobuo |
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| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Taira, Chiaki | |||||
| URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.upAVgekh.html | |||||
| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Matsuda, Kazuyuki | |||||
| URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.ganmgekh.html | |||||
| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Arai, Shinpei | |||||
| URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.uCnFPUym.html | |||||
| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Uehara, Takeshi | |||||
| URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.jNyegpkh.html | |||||
| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Okumura, Nobuo | |||||
| URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.OVnmgCkh.html | |||||
| 出版者 | ||||||
| 出版者 | MDPI | |||||
| 引用 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES.18:2470(2017) | |||||
| 書誌情報 |
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 巻 18, 号 11, p. 2470, 発行日 2017-11-20 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | We found a novel heterozygous mutation in the fibrinogen Bβ chain (c.490G>A) of a 3-year-old girl with congenital hypofibrinogenemia. To clarify the complex genetic mechanism, we made a mini-gene including a FGB c.490G>A mutation region, transfected it into a Chinese Hamster Ovary (CHO) cell line, and analyzed reverse transcription (RT) products. The assembly process and secretion were examined using recombinant mutant fibrinogen. Direct sequencing demonstrated that the mutant RT product was 99 bp longer than the wild-type product, and an extra 99 bases were derived from intron 3. In recombinant expression, a mutant Bβ-chain was weakly detected in the transfected CHO cell line, and aberrant fibrinogen was secreted into culture media; however, an aberrant Bβ-chain was not detected in plasma. Since the aberrant Bβ-chain was catabolized faster in cells, the aberrant Bβ-chain in a small amount of secreted fibrinogen may catabolize in the bloodstream. FGB c.490G>A indicated the activation of a cryptic splice site causing the insertion of 99 bp in intron 3. This splicing abnormality led to the production of a Bβ-chain possessing 33 aberrant amino acids, including two Cys residues in the coiled-coil domain. Therefore, a splicing abnormality may cause impaired fibrinogen assembly and secretion. | |||||
| 資源タイプ（コンテンツの種類） | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Article | |||||
| ISSN | ||||||
| 収録物識別子タイプ | EISSN | |||||
| 収録物識別子 | 1422-0067 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA12038549 | |||||
| PubMed | ||||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | https://www.ncbi.nlm.nih.gov/pubmed/29156616 | |||||
| 関連名称 | 29156616 | |||||
| 権利 | ||||||
| 権利情報 | © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| WoS | ||||||
| 表示名 | Web of Science | |||||
| URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000416811300240 | |||||
